A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.

Hiroyuki Yamagishi, M. Furutani, M. Kamisago, Y. Morikawa, Y. Kojima, Y. Hino, Y. Furutani, M. Kimura, S. Imamura, A. Takao, K. Momma, R. Matsuoka

Research output: Contribution to journalArticle

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Abstract

Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in several familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase chain reaction, single-strand conformation polymorphism analysis and DNA sequence analysis to identify a mutation of the SCN5A gene in the patient. A single nucleotide substitution of guanine to adenine, in codon 1612, changed the coding sense of the SCN5A from arginine to glutamine (R1623Q) in the S4 segment of domain IV which is a highly conserved region of the SCN5A. This mutation was not identified in the unaffected biological parents and brother of the patient, and 100 normal, unrelated individuals. This finding is the first evidence of a de nova mutation in SCN5A associated with LQTS.

Original languageEnglish
Pages (from-to)481
Number of pages1
JournalHuman Mutation
Volume11
Issue number6
Publication statusPublished - 1998

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Long QT Syndrome
Missense Mutation
Mutation
Genes
Guanine Nucleotides
Sodium Channels
Adenine
Glutamine
DNA Sequence Analysis
Codon
Arginine
Siblings
Nucleotides
Parents
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online. / Yamagishi, Hiroyuki; Furutani, M.; Kamisago, M.; Morikawa, Y.; Kojima, Y.; Hino, Y.; Furutani, Y.; Kimura, M.; Imamura, S.; Takao, A.; Momma, K.; Matsuoka, R.

In: Human Mutation, Vol. 11, No. 6, 1998, p. 481.

Research output: Contribution to journalArticle

Yamagishi, H, Furutani, M, Kamisago, M, Morikawa, Y, Kojima, Y, Hino, Y, Furutani, Y, Kimura, M, Imamura, S, Takao, A, Momma, K & Matsuoka, R 1998, 'A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online.', Human Mutation, vol. 11, no. 6, pp. 481.
Yamagishi, Hiroyuki ; Furutani, M. ; Kamisago, M. ; Morikawa, Y. ; Kojima, Y. ; Hino, Y. ; Furutani, Y. ; Kimura, M. ; Imamura, S. ; Takao, A. ; Momma, K. ; Matsuoka, R. / A de novo missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic long QT sydrome. Mutations in brief no. 140. Online. In: Human Mutation. 1998 ; Vol. 11, No. 6. pp. 481.
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